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DO Term : Lafora disease [DOID:3534] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
  • synonyms:
  • GARD:8214,
  • Lafora's disease,
  • UMLS_CUI:C0751783,
  • OMIM:254780,
  • MESH:D020192,
  • NCI:C84804,
  • 254780,
  • SNOMEDCT_US_2023_03_01:230425004,
  • Lafora Progressive Myoclonic Epilepsy,
  • MYOCLONIC EPILEPSY OF LAFORA
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